ACEseqWorkflow
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Replacing impute2 with Beagle; Support for hg19 and hg38 reference genomes
Replacing Impute2 with Beagle
- Changed the phasing routine. "Beagle" replaced the program "impute2". Files and tools were renamed accordingly.
- Renamed all tools and files from "imputeGenotype" to "phaseGenotype" (and so on) as the subroutine does not actually perform imputation but phasing.
Support for hg19 and hg38 reference genomes
- Hg38 reference genome
GRCh38_decoy_ebv_phiX_alt_hla_chr.fa
is supported now along with the older hg19. - Liftover are done for homozygous deletion artefacts and no-control 1K window files for now. Once we have more samples analyzed with hg38, we will replace them.
Summary by CodeRabbit
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New Features
- Major version update to 6.0.0 with significant changes including the replacement of the "impute2" program with "Beagle", renaming of tools and files, and addition of new mappability options.
- Added support for the hg38 genome.
- Introduced a new CNA type 'AMP'.
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Bug Fixes
- Fixed minor bugs in version 5.1.0 and 5.0.1.
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Documentation
- Updated instructions for downloading and processing reference genome files for GRCh38.
- Updated method of phasing genotypes of SNP positions in the documentation.
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Refactor
- Updated paths and added new variables related to Beagle imputation in the ACEseq configuration.
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Tests
- Updated dependency version from COWorkflowsBasePlugin 1.2.1 to 1.4.2.
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Style
- Updated shebang from
#!/usr/bin/python
to#!/usr/bin/env python
in several scripts for better portability.
- Updated shebang from
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Chores
- Added the file "hg19_GRCh37_1000genomes" to the list of ignored patterns.